chromosomal abnormalities

advance maternal age is considered to be

35 and over

the triple screen typically includes

alpha fetoprotein estriol hCG

rounded head shape is referred to as

brachycephaly

the maternal serum screening of a mother with a fetus with trisomy 18 will reveal

decreased hcg alpha fetoprotein estriol

widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for

down syndrome

webbed fingers or toes are termed

syndactyly

sonographically you identify a fetus with fusion of the thalami and a monoventricle. which chromosomal abnormality would be most liekly

trisomy 13

what is macroglossia most often associated with

trisomy 21

Webbing of the neck and short stature is found in infertile female patients with a history of

turner syndrome

the earliest invasive fetal karyotyping technique that can be performed is

CVS

echogenic small bowel is most often associated with

down syndrome

a molar pregnancy omphalocele and small low set ears are found most often with

triploidy

another name for Patau syndrome is

trisomy 13

bilateral choroid plexus cysts micrognathia and rockerbottom feet are sonographic findings of a 27 wk fetus w an omphalocele. these findings are most consistent with

trisomy 18

a 22 wk fetus with clinodactyly and echogenic intracardiac focus and hyperechoic bowel is noted during a screening obstetric sonogram. these findings are most consistent with

trisomy 21

which of the following is a sex chromosome anomally

45/ x / turner syndrome

normal diploid cells have

46 chromosomes

with what procedure is placental tissue obtained

CVS chorionic villi sampling

which protein is not produced by the developing placenta

alpha fetoprotein

what are the fingerlike projections of gestational tissue that attach to the decidualized endometrium

chorionic villi

the bending of the fifth digit towards the fourth digit is called

clinodactyly

pelvocaliectasis refers to

dilation of the renal pelvis and calices

a 38 yr old pregnant female presents to the sonography dept for an ob sonogram with abnl maternal serum screening. her alpha fetoprotein and estriol are low whereas her hCG is elevated. these lab findings are most consistent with

down syndrome

what is another name for the most common chromosomal abnormality

down syndrome

with which of the following syndromes is brachycephaly associated most often

down syndrome

a strawberry shaped skull is associated with

edwards syndrome

which of the following laboratory findings would not be consistent with trisomy 21 high afp low estriol high hcg low papp-a

high afp

which of the following is not consistent with the diagnosis of nonimmune hydrops

hypoplastic mandible

which of the following is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males

klinefelter syndrome

a structural abnormality that results from an abnl development describes

malformation

the term for small eyes is

micropthalmia

Fusion of the orbits and holoprosencephaly are associated with:

patau syndrome

a large space between the first and second toes is termed

sandal gap

a fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has

triploidy

theca lutein cysts would most likely be linked with a molar pregnancy and

triploidy

Cleft lip, hypotelorism, and microphthalmia are all sonographic features of

trisomy 13

cyclopia would most likely be associated with

trisomy 13

absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for

trisomy 21

monosomy x refers to

turner syndrome

nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by

turner syndrome